Detection of circulating tumor DNA in patients with advanced non-small cell lung cancer

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Abstract

// Yu Yao 1, * , Jinghao Liu 2, * , Lei Li 3, * , Yuan Yuan 3, * , Kejun Nan 1 , Xin Wu 3 , Zhenyu Zhang 3 , Yi Wu 2 , Xin Li 2 , Jiaqi Zhu 3 , Xuehong Meng 3 , Longgang Wei 3 , Jun Chen 2 , Zhi Jiang 3 1 Department of Medical Oncology, The First Affiliated Hospital of Xi’an Jiaotong University, Shanxi, China 2 Department of Lung Cancer Surgery, Tianjin Key Laboratory of Lung Cancer Metastasis and Tumor Microenvironment, Tianjin Lung Cancer Institute, Tianjin Medical University General Hospital, Tianjin, China 3 Novogene Bioinformatics Institute, Beijing, China * These authors contributed equally to this work Correspondence to: Jun Chen, email: huntercj2004@yahoo.com Zhi Jiang, email: jiangzhi@novogene.com Keywords: circulating tumor DNA, NSCLC, targeted sequencing, EGFR, gene fusion Received: May 04, 2016      Accepted: October 19, 2016      Published: October 25, 2016 ABSTRACT Circulating tumor DNA (ctDNA) isolated from plasma has great potential in identification of gene mutation in non-small cell lung cancers (NSCLC), which is a non-invasive technique and can avoid the inherent shortcomings of tissue biopsy. However the ability of NGS to detect gene mutation in plasma ctDNA has not been broadly explored. To assess the diagnostic ability of ctDNA for the total mutation profile, including single nucleotide variations (SNVs), insertions and deletions (indels) and gene rearrangements, we performed a targeted DNA sequencing approach to screen NSCLC related driver gene mutations in both tissue biopsies and matched blood plasma samples from 39 advanced NSCLC patients from China. The sensitivity of EGFR , KRAS , PIK3CA mutations and gene rearrangements detected in plasma ctDNA was 70.6%, 75%, 50% and 60%, respectively and the overall concordance of gene mutations between tissue DNA and plasma ctDNA was 78.21%. Our data provide evidence that ctDNA in plasma is likely to become an alternative source for cancer-related mutations profiling in advanced NSCLC patients and targeted sequencing of ctDNA offers a promising perspective on precise diagnostics and may serve as a feasible option for clinical monitoring of NSCLC patients.

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